Variant report

Variant	rs7308873
Chromosome Location	chr12:51643242-51643243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51640501..51643365-chr12:51664040..51666792,2	K562	blood:
2	chr12:51638552..51640559-chr12:51641323..51644888,4	MCF-7	breast:
3	chr12:51642963..51645463-chr12:51661236..51663981,2	K562	blood:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1049467	0.86[AMR][1000 genomes]
rs10735833	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10783424	0.87[EUR][1000 genomes]
rs6580813	0.84[EUR][1000 genomes]
rs7311832	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7312011	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7397479	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv3324940	chr12:51640852-51648054	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51635200-51647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
3	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51639200-51644600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:51639800-51643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:51639800-51646600	Weak transcription	Aorta	Aorta
8	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
9	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
10	chr12:51640000-51656400	Weak transcription	A549	lung
11	chr12:51640200-51656400	Weak transcription	Hela-S3	cervix
12	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
14	chr12:51640400-51643400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:51640400-51651000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:51640400-51659000	Weak transcription	HMEC	breast
17	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:51640600-51649000	Weak transcription	NHEK	skin
19	chr12:51640600-51656600	Weak transcription	NHDF-Ad	bronchial
20	chr12:51640600-51661800	Weak transcription	NH-A	brain
21	chr12:51640800-51644800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:51641000-51656600	Weak transcription	Osteobl	bone
23	chr12:51641200-51643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:51641600-51648400	Weak transcription	Fetal Intestine Small	intestine
25	chr12:51641600-51651000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:51641800-51644000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:51641800-51644400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:51641800-51648600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:51641800-51656400	Weak transcription	Stomach Mucosa	stomach
31	chr12:51641800-51656400	Weak transcription	HUVEC	blood vessel
32	chr12:51642000-51644200	Weak transcription	K562	blood
33	chr12:51642000-51644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:51642000-51646400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:51642000-51646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51642000-51650600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:51642000-51651000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:51642000-51662800	Weak transcription	NHLF	lung
39	chr12:51642200-51643400	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr12:51642200-51643600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:51642200-51643800	Weak transcription	Fetal Brain Female	brain
42	chr12:51642200-51644200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:51642200-51644200	Weak transcription	Placenta	Placenta
44	chr12:51642200-51644800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:51642200-51645000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:51642200-51646600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:51642200-51646600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:51642200-51646600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:51642200-51648400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon

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